Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SMC hinge domain containing 1
Synonyms:
4931400A14Rik,  MommeD1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smchd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Smchd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:603457
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism ORPHA:2250
Facioscapulohumeral Muscular Dystrophy 2, Digenic
OMIM:158901
Facioscapulohumeral Dystrophy
ORPHA:269

The table below shows human diseases predicted to be associated to Smchd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:603457
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism ORPHA:2250
Facioscapulohumeral Muscular Dystrophy 2, Digenic
OMIM:158901
Facioscapulohumeral Dystrophy
ORPHA:269

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smchd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smchd1.

No publications found that use IMPC mice or data for Smchd1.

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